Description
The Cystic Fibrosis Genotyping – 39 Mutations (CF 39) test is a genetic screening tool used to detect 39 of the most common mutations in the CFTR gene associated with cystic fibrosis (CF). CF is a hereditary disorder that primarily affects the lungs and digestive system, leading to thick mucus buildup, recurrent infections, and difficulty absorbing nutrients.
Purpose of the Test
- To diagnose cystic fibrosis in symptomatic individuals
- To identify carrier status in individuals or couples planning for children
- To assist in newborn screening and genetic counseling
- To guide treatment decisions, especially with new CFTR modulator therapies
What the Test Detects
- Mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene
- This test identifies 39 specific mutations, including ΔF508 (delta F508), the most common CF-causing mutation
- It does not detect all possible CFTR mutations, but covers the majority found in the U.S. population
Who Should Consider This Test?
- Individuals with symptoms of cystic fibrosis
- Parents or siblings of a person with CF
- Couples planning a pregnancy who want to assess genetic risks
- People with a family history of CF
- Certain ethnic groups at higher risk for specific mutations
Fasitng not required.
